Dutch Diagnosis Registration Metabolic Diseases

Introduction

The Dutch Diagnosis Registration Metabolic Diseases (DDRMD) is a collaborative project of all clinical metabolic centers in the Netherlands which started in 2001. The initiation of the DDRMD was made possible by a grant from Metakids (www.metakids.nl.) Funding for the web-based database was initially made possible by TI-Pharma project T6-208 (Dutch Orphan Disease Registry Consortium) and further expansion until 2014 by TI-Pharma project T6-505 (www.tipharma.com). Thereafter funding is obtained by unrestricted grants from sponsors and a restricted grant from the RIVM.

Goal

To improve outcome for patients with inherited metabolic diseases.

Method

Offering open access to data on incidence and prevalence of inherited metabolic diseases in the Netherlands via www.ddrmd.nl. In a disease-based database patients with clinical and biochemical well-defined diseases are registered and exclusively data of patients with a confirmed diagnosis are processed.

In addition, since 2007, the DDRMD is used for collecting data of newborns with an abnormal newborn screening result indicative for a metabolic disease. These data are used by NEORAH (NEOnatal Registration Abnormal Heelprickscreening) to provide information concerning the outcome of the newborn screening on metabolic diseases in the Netherlands.

Downloads

Several files based on our data are available under downloads, including the most recent list of all metabolic diseases in our database and a list with minimal incidences of the registered diseases.

Metabolic Centers

All Dutch metabolic centers are participating in the DDRMD. Additional information per center can be found under metabolic centers.

For additional information you may contact .

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